A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671227



Internal ID9937332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132881708..132882507hg38UCSC Ensembl
chr9:135757095..135757894hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6003122, essv6317045, essv5694200, essv5826090, essv5893031, essv6157606, essv5847850, essv6322823, essv5841966, essv6434260, essv5797563, essv6278550, essv6254679, essv6565363, essv5547897, essv6582907, essv6196052, essv5824906, essv6016338, essv5514531, essv5977095, essv5656550, essv5491465, essv6423306, essv5966607, essv6148803, essv6449070
SamplesNA19058, NA19055, NA19066, NA12751, HG01465, NA18550, NA18597, NA12282, HG00120, NA20819, NA19719, HG00309, NA12748, NA20760, HG00320, HG00584, NA18534, HG01047, HG00525, HG00146, NA19834, NA19256, HG00580, NA07051, NA20803, NA12830, NA18577
Known GenesC9orf9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671227
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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